WASF1

Wiskott–Aldrich syndrome protein family member 1, also known as WASP-family verprolin homologous protein 1 (WAVE1), is a protein that in humans is encoded by the WASF1 gene.[5][6][7]

WASF1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesWASF1, SCAR1, WAVE, WAVE1, WAS protein family member 1, WASP family member 1, NEDALVS
External IDsOMIM: 605035 MGI: 1890563 HomoloGene: 2920 GeneCards: WASF1
Gene location (Human)
Chr.Chromosome 6 (human)[1]
Band6q21Start110,099,819 bp[1]
End110,180,004 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8936

83767

Ensembl

ENSG00000112290

ENSMUSG00000019831

UniProt

Q92558

Q8R5H6

RefSeq (mRNA)

NM_001024934
NM_001024935
NM_001024936
NM_003931

NM_031877
NM_001379453
NM_001379454

RefSeq (protein)

NP_001020105
NP_001020106
NP_001020107
NP_003922

NP_114083
NP_001366382
NP_001366383

Location (UCSC)Chr 6: 110.1 – 110.18 MbChr 10: 40.88 – 40.94 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

The protein encoded by this gene, a member of the Wiskott–Aldrich syndrome protein (WASP) family, plays a critical role downstream of Rac, a Rho-family small GTPase, through its involvement in the WAVE regulatory complex in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro.

Clinical significance

Wiskott–Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton.[7]

Interactions

WASF1 has been shown to interact with BAIAP2[8] and Profilin 1.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000112290 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000019831 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Miki H, Suetsugu S, Takenawa T (February 1999). "WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac". EMBO J. 17 (23): 6932–41. doi:10.1093/emboj/17.23.6932. PMC 1171041. PMID 9843499.
  6. Machesky LM, Insall RH (March 1999). "Scar1 and the related Wiskott–Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex". Curr Biol. 8 (25): 1347–56. doi:10.1016/S0960-9822(98)00015-3. PMID 9889097. S2CID 16661755.
  7. "Entrez Gene: WASF1 WAS protein family, member 1".
  8. Miki H, Yamaguchi H, Suetsugu S, Takenawa T (December 2000). "IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling". Nature. 408 (6813): 732–5. Bibcode:2000Natur.408..732M. doi:10.1038/35047107. PMID 11130076. S2CID 4426046.

Further reading


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